Evidence map›Paper›PMID 38965249›Full record

ReviewNPJ genomic medicine2024

Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International.

Elizabeth Emma Palmer, Helene Cederroth, Mikk Cederroth, Angelica Maria Delgado-Vega, Natalie Roberts, Fulya Taylan, Ann Nordgren, Lorenzo D Botto

Abstract readReview
In one paragraph

Review in NPJ genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Elizabeth Emma PalmerDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia. Elizabeth.palmer@unsw.edu.au.ORCID http://orcid.org/0000-0003-1844-215X
Helene CederrothWilhelm Foundation, Stockholm, Sweden.
Mikk CederrothWilhelm Foundation, Stockholm, Sweden.ORCID http://orcid.org/0009-0004-0295-5545
Angelica Maria Delgado-VegaDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Natalie RobertsDiscipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.ORCID http://orcid.org/0009-0000-9906-4589
Fulya TaylanDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-2907-0235
Ann NordgrenDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-3285-4281
Lorenzo D BottoDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from historically underserved communities, including low- and middle-income countries. The Undiagnosed Diseases Network International (UDNI) was launched in 2015 to help fill the knowledge gaps that impede diagnosis for rare diseases, and to foster the translation of research into medical practice, aided by active patient involvement. To better pursue these goals, in 2021 the UDNI established the Diagnostic Working Group of the UDNI (UDNI DWG) as a community of practice that would (a) accelerate diagnoses for more families; (b) support and share knowledge and skills by developing Undiagnosed Diseases Programs, particularly those in lower resource areas; and (c) promote discovery and expand global medical knowledge. This Perspectives article documents the initial establishment and iterative co-design of the UDNI DWG.

Identifiers

PMID38965249
PMCPMC11224220

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.